Canonical Allele Identifier: CA626225496

Gene: GFAP

Linked Data

• dbSNP Id: rs1422384274
• gnomAD v2: 17-42988556-CCGTG-C
• gnomAD v4: 17-44911188-CCGTG-C
• MyVariant Identifiers: chr17:g.42988557_42988560del (hg19) ; chr17:g.44911189_44911192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911189_44911192del , CM000679.2:g.44911189_44911192del	GRCh38
NC_000017.10:g.42988557_42988560del , CM000679.1:g.42988557_42988560del	GRCh37
NC_000017.9:g.40344083_40344086del	NCBI36
NG_008401.1:g.9355_9358del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+44_1127+47del	ENSP00000253408.5:n.1127+44_1127+47del
ENST00000435360.8:c.1127+44_1127+47del	ENSP00000403962.1:n.1127+44_1127+47del
ENST00000253408.10:c.1127+44_1127+47del	ENSP00000253408.5:n.1127+44_1127+47del
ENST00000435360.7:c.1127+44_1127+47del	ENSP00000403962.1:n.1127+44_1127+47del
ENST00000585543.6:n.280+44_280+47del
ENST00000586125.2:c.62+44_62+47del	ENSP00000467397.2:n.62+44_62+47del
ENST00000586127.6:n.1656+44_1656+47del
ENST00000586793.6:c.992+44_992+47del	ENSP00000468500.2:n.992+44_992+47del
ENST00000587997.6:n.603+44_603+47del
ENST00000588735.3:c.1127+44_1127+47del MANE Select	ENSP00000466598.2:n.1127+44_1127+47del
ENST00000591327.2:n.2281+44_2281+47del
ENST00000591880.2:c.57+44_57+47del
ENST00000592320.6:c.704+44_704+47del	ENSP00000465320.1:n.704+44_704+47del
ENST00000638281.1:c.1127+44_1127+47del	ENSP00000491088.1:n.1127+44_1127+47del
ENST00000638304.1:c.46+44_46+47del
ENST00000638488.1:n.68+44_68+47del
ENST00000638618.1:c.782+44_782+47del	ENSP00000492832.1:n.782+44_782+47del
ENST00000639042.1:c.64+44_64+47del
ENST00000639277.1:c.1127+44_1127+47del	ENSP00000492432.1:n.1127+44_1127+47del
ENST00000639921.1:c.84+44_84+47del
ENST00000640552.1:n.1141+44_1141+47del
ENST00000253408.9:c.1127+44_1127+47del	ENSP00000253408.4:n.1127+44_1127+47del
ENST00000435360.6:c.1127+44_1127+47del	ENSP00000403962.1:n.1127+44_1127+47del
ENST00000585543.5:n.280+44_280+47del
ENST00000586793.5:c.1127+44_1127+47del	ENSP00000468500.1:n.1127+44_1127+47del
ENST00000588640.5:n.507+44_507+47del
ENST00000588735.1:c.83-3076_83-3073del	ENSP00000466598.1:n.83-3076_83-3073del
ENST00000592320.5:c.704+44_704+47del	ENSP00000465320.1:n.704+44_704+47del
NM_001131019.2:c.1127+44_1127+47del	NP_001124491.1:n.1127+44_1127+47del
NM_001242376.1:c.1127+44_1127+47del	NP_001229305.1:n.1127+44_1127+47del
NM_002055.4:c.1127+44_1127+47del	NP_002046.1:n.1127+44_1127+47del
NM_001363846.1:c.1127+44_1127+47del	NP_001350775.1:n.1127+44_1127+47del
XM_024450690.1:c.1331+44_1331+47del	XP_024306458.1:n.1331+44_1331+47del
XM_024450691.1:c.1331+44_1331+47del	XP_024306459.1:n.1331+44_1331+47del
XM_024450692.1:c.1331+44_1331+47del	XP_024306460.1:n.1331+44_1331+47del
XM_024450693.1:c.1331+44_1331+47del	XP_024306461.1:n.1331+44_1331+47del
NM_002055.5:c.1127+44_1127+47del MANE Select	NP_002046.1:n.1127+44_1127+47del
NM_001131019.3:c.1127+44_1127+47del	NP_001124491.1:n.1127+44_1127+47del
NM_001242376.2:c.1127+44_1127+47del	NP_001229305.1:n.1127+44_1127+47del
NM_001242376.3:c.1127+44_1127+47del	NP_001229305.1:n.1127+44_1127+47del
NM_001363846.2:c.1127+44_1127+47del	NP_001350775.1:n.1127+44_1127+47del